Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in Tuscany

被引:27
作者
Torricelli, F
Girolami, F
Olivotto, I
Passerini, I
Frusconi, S
Vargiu, D
Richard, P
Cecchi, F
机构
[1] Azienda Osped Careggi, UO Citogenet & Genet, Cytogenet & Genet Unit, I-50134 Florence, Italy
[2] Azienda Osped Careggi, Reg Referral Ctr Myocardial Dis, I-50134 Florence, Italy
[3] Hop La Pitie Salpetriere, Cardiogenet Unit, Paris, France
关键词
D O I
10.1016/j.amjcard.2003.08.031
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The prevalence and clinical profile of cardiac troponin T gene mutations were evaluated in 150 consecutive patients with hypertrophic cardiomyopathy from the well-defined geographic region of Tuscany. Troponin T mutations had a low prevalence (3.3%; including a newly described Phe110Leu mutation) and were associated with heterogeneous clinical expression and outcome. (C) 2003 by Excerpta Medica, Inc.
引用
收藏
页码:1358 / 1362
页数:5
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